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Pdha2 Gene Detail
Summary
  • Symbol
    Pdha2
  • Name
    pyruvate dehydrogenase E1 alpha 2
  • Synonyms
    Pdhal
  • Feature Type
    protein coding gene
  • IDs
    MGI:97533
    NCBI Gene: 18598
  • Alliance
    genome feature page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:140915765-140918116 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 65.30 cM, cytoband B
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    173 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97533
 protein coding gene Chr3:140915765-140918116 (-)
129S1/SvImJ ENSMUSG00200002658
 protein coding gene Chr3:137695597-137697942 (-)
A/J ENSMUSG00195003884
 protein coding gene Chr3:137835993-137838345 (-)
AKR/J ENSMUSG00220003061
 protein coding gene Chr3:136261631-136263983 (-)
BALB/cJ ENSMUSG00180011172
 protein coding gene Chr3:137725108-137727460 (-)
C3H/HeJ ENSMUSG00175018360
 protein coding gene Chr3:137329480-137331831 (-)
C57BL/6NJ ENSMUSG00215014070
 protein coding gene Chr3:138094763-138097115 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025688
 protein coding gene Chr3:134511713-134514036 (-)
CAST/EiJ ENSTCUG00005028984
 protein coding gene Chr3:138437312-138439659 (-)
CBA/J ENSMUSG00210031096
 protein coding gene Chr3:137950081-137952432 (-)
DBA/2J ENSMUSG00185003271
 protein coding gene Chr3:138562834-138565185 (-)
FVB/NJ ENSMUSG00205017029
 protein coding gene Chr3:136863856-136866207 (-)
JF1/MsJ ENSUMUG00000003176
 protein coding gene Chr3:137343674-137346019 (-)
LP/J ENSMUSG00230002999
 protein coding gene Chr3:140506489-140508938 (-)
NOD/ShiLtJ ENSMUSG00190004092
 protein coding gene Chr3:138955320-138957672 (-)
NZO/HlLtJ ENSMUSG00225001878
 protein coding gene Chr3:143003428-143005779 (-)
PWK/PhJ ENSLUMG00010021003
 protein coding gene Chr3:137262537-137264880 (-)
SPRET/EiJ ENSMSPG00010013121
 protein coding gene Chr3:138491723-138493790 (-)
WSB/EiJ ENSIUOG00005017448
 protein coding gene Chr3:138111779-138114130 (-)



Homology
more
  • Human Ortholog
    PDHA2, pyruvate dehydrogenase E1 subunit alpha 2
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PDHA2, pyruvate dehydrogenase E1 subunit alpha 2
  • Synonyms
    PDHAL, SPGF70
  • Links
    NCBI Gene ID: 5161
    UniProt: P29803

  • Chr Location
    4q22.3; chr4:95840093-95841464 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human PDHA2 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    34
  • GO References
    13
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    796
  • Tissues
    105
  • cDNA Data
    16
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18598 NCBI Gene Model | MGI Sequence Detail 2352 C57BL/6J ±  kb
    transcript NM_008811 RefSeq | MGI Sequence Detail 2352 C57BL/6  
    polypeptide P35487 UniProt | EBI | MGI Sequence Detail 391 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000012494 pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial
      (term hierarchy)
    • EC
      1.2.4.1
    • InterPro Domains
      IPR001017 Dehydrogenase, E1 component
      IPR017597 Pyruvate dehydrogenase (acetyl-transferring) E1 component, alpha subunit, subgroup y
      IPR050642 Pyruvate Dehydrogenase E1 Alpha Subunit
      IPR029061 Thiamin diphosphate-binding fold
    Molecular
    Reagents
    less
    • All nucleic 22
      Genomic 2
      cDNA 18
      Primer pair 2
      Antibodies 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-13220
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 13
      Phenotypes 11
    • Earliest
      J:10821 Brown RM, et al., Pyruvate dehydrogenase E1 alpha subunit genes in the mouse: mapping and comparison with human homologs. Somat Cell Mol Genet. 1990 Sep;16(5):487-92
    • Latest
      J:385341 Pan C, et al., Compensation for X-linked Pdha1 silencing by Pdha2 is essential for meiotic double-strand break repair in spermatogenesis. Development. 2025 Aug 1;152(15):dev204683
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory